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Spera Genomics Offering Preventive Whole-Genome Sequencing to Canadian Patients


NEW YORK (GenomeWeb) – Spera Genomics is offering patients in Canada a preventive whole-genome sequencing service with annually updated clinical reports, all in the context of a long-term research study.

The company, a division of Spera Medical — a small cardiology clinic near Montreal that was founded by cardiologist and current CEO Deepak (Bobby) Jain — received approval for the whole-genome sequencing study of healthy individuals from a Canadian ethical review board late last year and is now ready to sign up its first clients. Participants in the study and service, which Jain said is the first of its kind in Canada, need to pay C$4,000 upfront and a monthly subscription fee of C$180.

Patients interested in the service, which is only available to adults, need to speak to a genetic counselor and sign the contract and consent form prior to having their blood drawn. After the sample is assigned a unique identifier code, it is shipped to a laboratory at the McGill University Genome Quebec Innovation Center in Montreal for whole-genome sequencing. The anonymized sequencing data is then uploaded to an Amazon cloud service server and the company uses cloud-based bioinformatics to generate a clinical report that is sent to Spera Medical. If a pathogenic variant is found, it is validated by a diagnostic laboratory and patients are contacted to make an appointment with a genetic counselor.

According to George Charames, who heads genomics at Spera, the goal of the genome analysis is to identify abnormalities that the clients may not be aware of and that are clinically actionable.

Initially, the analysis will be restricted to the 59 genes recommended by the American College of Medical Genetics and Genomics for reporting secondary findings. "As a clinician, I know what every single one of those are, and they’re all relevant to my practice," Jain explained, adding that no variants of unknown significance will be included in the report.

Clients will obtain updated clinical reports on an annual basis, which will include additional clinically actionable variants identified by the company’s research team over time.

Initially, the report will not contain any pharmacogenomics results, disease carrier variants, nutrigenomics results or ancestry information. "For the time being, our interest is very focused on diseases and just to diagnose disease," he said.

Once the number of clients has reached a "critical mass" of about 200 to 300 people, the company plans to commence its research program, a 50-year longevity study called the Spera Medical Genome Project.

As part of this research, scientists will look for genetic disease associations by studying relationships between patients' clinical data — for example diagnostic test results or disease history — and genomic variants. This will involve machine-based learning in partnership with IBM Watson, which will require a minimum of approximately 500 to 1,000 genomes, Jain said. The goal is to discover new variants that can be used to predict disease risk, said Charames, who is also the director of a university-affiliated molecular diagnostics laboratory in Ontario. In addition, the study plans to look into the clinical utility of genomic information, he said.

Patients' sequence data are anonymized for the study and health insurance providers will have no access to the research results, Jain said. He is also in talks with two insurance companies to provide study participants with discounts to life and disability insurance, on the basis that by being part of the study, they will find out about their genetic disease risks and can be screened to detect disease early or prevent it entirely, resulting in longer life and fewer disability claims.

Much of the cost of the study and service is related to ongoing cloud storage fees and the generation of clinical reports, Jain said, rather than whole-genome sequencing. He estimated that the service will be viable once 200 to 300 individuals have signed up for it. In addition, Spera Genomics is supported by revenues from Spera Medical, and the study has secured about C$150,000 in funding from the Canadian government.

So far, the company has beta-tested the approach on two individuals but hopes to scale the service quickly. "We want to rapidly escalate this to thousands of patients per year," Jain said. The initial set of clients will likely come from the cardiology clinic, but Jain is getting the word out about the study by speaking to family doctors in Montreal, Toronto, and other places.

The service and study will initially be available in Canada, but Spera plans to expand it to the US, parts of the Middle East, and Europe.